Disease

autosomal dominant intellectual developmental disorder 7

Definition

An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13.

Synonyms

autosomal dominant mental retardation 7
autosomal dominant non-syndromic intellectual disability 7

Cross References

MIM:614104

Parent Terms

autosomal dominant intellectual developmental disorder

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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